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  2. academic.oup.com academic.oup.com
    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: VHL10

      Case: F, 65Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient had one malignant pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: Table 1 of Supplementary

      Variant: p.Y156H (c.466T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756040, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.466T%3EC

      gnomAD: N/A

      VariantEvidence: The patient had LOH found in the BAC array CGH data.

      MutationType: missense_variant;transition

      CivicName: Y156H (c.466T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:65 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:466 ProteinPosition:156 AminoAcidChange:TYRtoHIS ClinVarID:N/A CAID:CA351756040 MutationType:missense_variant;transition CivicName:Y156H(c.466T>C) PreviousTesting:RET/SDHB/SDHC/SDHD NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: VHL10

      Case: F, 65Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient had one malignant pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: Table 1 of Supplementary

      Variant: p.Y156H (c.466T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756040, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.466T%3EC

      gnomAD: N/A

      VariantEvidence: The patient had LOH found in the BAC array CGH data.

      MutationType: missense_variant;transition

      CivicName: Y156H (c.466T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:65 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:466 ProteinPosition:156 AminoAcidChange:TYRtoHIS ClinVarID:N/A CAID:CA351756040 MutationType:missense_variant;transition CivicName:Y156H(c.466T>C) PreviousTesting:RET/SDHB/SDHC/SDHD NoFamilyInfo SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/hmg/article/20/20/3974/696619